Variant report

Variant	rs550183279
Chromosome Location	chr11:67164005-67164006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67163972-67167371	HL-60	blood:	n/a	n/a
2	POLR2A	chr11:67163809-67164368	GM19193	blood:	n/a	n/a
3	POLR2A	chr11:67163695-67165813	GM12891	blood:	n/a	n/a
4	POLR2A	chr11:67163691-67164487	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:67163721-67164696	A549	lung:	n/a	n/a
6	POLR2A	chr11:67163566-67164411	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:67162849-67167326	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:67162576-67164718	U87	brain:	n/a	n/a
9	ELF1	chr11:67163931-67164820	GM12878	blood:	n/a	chr11:67164124-67164136
10	POLR2A	chr11:67162831-67167316	K562	blood:	n/a	n/a
11	POLR2A	chr11:67163752-67164073	A549	lung:	n/a	n/a
12	POLR2A	chr11:67163677-67167294	GM12892	blood:	n/a	n/a
13	POLR2A	chr11:67162599-67167265	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr11:67163149-67167243	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr11:67163894-67164118	ProgFib	skin:	n/a	n/a
16	POLR2A	chr11:67163917-67166568	K562	blood:	n/a	n/a
17	POLR2A	chr11:67162873-67167363	GM12892	blood:	n/a	n/a
18	POLR2A	chr11:67162727-67164434	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr11:67163611-67164795	GM12891	blood:	n/a	n/a
20	POLR2A	chr11:67163735-67164663	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr11:67163618-67164465	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:67163943-67164796	HL-60	blood:	n/a	n/a
23	POLR2A	chr11:67162822-67167423	K562	blood:	n/a	n/a
24	POLR2A	chr11:67163983-67164361	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:67163762-67167367	K562	blood:	n/a	n/a
26	POLR2A	chr11:67163626-67167320	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr11:67163693-67165862	GM12891	blood:	n/a	n/a
28	POLR2A	chr11:67163577-67167470	PANC-1	pancreas:	n/a	n/a
29	POLR2A	chr11:67162931-67167248	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:67163953-67164040	Hela-S3	cervix:	n/a	n/a
31	MTA3	chr11:67163641-67165543	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:67163768-67164711	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr11:67162796-67164735	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr11:67162854-67167503	K562	blood:	n/a	n/a
35	POLR2A	chr11:67163544-67165831	GM12892	blood:	n/a	n/a
36	POLR2A	chr11:67163568-67164468	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67161941..67164521-chr11:67269135..67270716,2	K562	blood:
2	chr11:67163742..67165862-chr11:67248927..67251919,3	K562	blood:
3	chr11:67032184..67035938-chr11:67163286..67166360,3	K562	blood:

No data

Variant related genes	Relation type
RNU6-1238P	TF binding region
ENSG00000173020	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000110697	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
4	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
6	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
7	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
8	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
9	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
10	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
11	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
12	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
13	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
14	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
15	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
16	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
17	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
18	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
19	esv1010387	chr11:67163827-67164654	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67160000-67165000	Weak transcription	Aorta	Aorta
2	chr11:67160200-67165000	Weak transcription	Small Intestine	intestine
3	chr11:67160200-67166200	Weak transcription	Fetal Kidney	kidney
4	chr11:67160200-67167000	Weak transcription	Psoas Muscle	Psoas
5	chr11:67160400-67164200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr11:67160400-67164200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr11:67160400-67164200	Weak transcription	HMEC	breast
8	chr11:67160400-67164200	Weak transcription	HUVEC	blood vessel
9	chr11:67160400-67164400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:67160400-67164800	Weak transcription	Left Ventricle	heart
11	chr11:67160400-67165000	Weak transcription	Stomach Mucosa	stomach
12	chr11:67160400-67165000	Weak transcription	NHDF-Ad	bronchial
13	chr11:67160400-67165200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:67160400-67165200	Weak transcription	HSMMtube	muscle
15	chr11:67160400-67165200	Weak transcription	NH-A	brain
16	chr11:67160400-67165400	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:67160400-67166600	Strong transcription	Brain Cingulate Gyrus	brain
18	chr11:67160400-67166800	Strong transcription	A549	lung
19	chr11:67160400-67167800	Weak transcription	Right Atrium	heart
20	chr11:67160600-67165000	Weak transcription	HSMM	muscle
21	chr11:67160600-67166800	Weak transcription	Fetal Brain Male	brain
22	chr11:67160800-67165000	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr11:67160800-67167000	Strong transcription	Fetal Intestine Large	intestine
24	chr11:67160800-67167200	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:67160800-67167200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
26	chr11:67161000-67164200	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr11:67161000-67165000	Weak transcription	Fetal Heart	heart
28	chr11:67161000-67166400	Strong transcription	Lung	lung
29	chr11:67161000-67166800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:67161000-67167400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:67161000-67167600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:67161200-67164400	Weak transcription	Primary B cells from cord blood	blood
33	chr11:67161200-67164800	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:67161200-67166000	Strong transcription	Esophagus	oesophagus
35	chr11:67161200-67167000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:67161200-67168000	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr11:67161400-67167000	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:67161400-67167800	Strong transcription	NHEK	skin
39	chr11:67161400-67168000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:67161600-67164200	Strong transcription	Primary B cells from peripheral blood	blood
41	chr11:67161600-67164800	Strong transcription	Right Ventricle	heart
42	chr11:67161600-67167800	Strong transcription	Brain Substantia Nigra	brain
43	chr11:67161800-67164800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr11:67161800-67165000	Weak transcription	Hela-S3	cervix
45	chr11:67161800-67166400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:67161800-67166800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:67162000-67164200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:67162000-67164800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:67162000-67164800	Weak transcription	K562	blood
50	chr11:67162600-67164600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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